ArticleEuropean journal of human genetics : EJHG2021
Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result.European journal of human genetics : EJHG · 2026Article
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review.Genetics in medicine open · 2026Review
- Artificial intelligence-simplified information to advance reproductive genetic literacy and health equity.Human reproduction (Oxford, England) · 2025Observational
- Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- Pregnant couples' attitude toward extended pre-conceptional genomic screening.Croatian medical journal · 2024Article
- Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.Journal of community genetics · 2024Article
- Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.Journal of assisted reproduction and genetics · 2024Article
- Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.Journal of assisted reproduction and genetics · 2024Article
- Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process.European journal of human genetics : EJHG · 2023Article
- Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.European journal of human genetics : EJHG · 2023Article
- Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages.Healthcare (Basel, Switzerland) · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.Journal of personalized medicine · 2022Article
- Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders.PloS one · 2022Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.
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Registered trials
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